Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.
- Author:
Jianbo SHU
1
;
Fengying CAI
;
Wenxuan FAN
;
Yingtao MENG
;
Chunhua ZHANG
;
Chunquan CAI
;
Yuqin ZHANG
;
Shuxiang LIN
Author Information
- Publication Type:Case Reports
- MeSH: Amino Acid Metabolism, Inborn Errors; ethnology; genetics; Amino Acid Sequence; Asian Continental Ancestry Group; genetics; Base Sequence; China; DNA Mutational Analysis; methods; Developmental Disabilities; ethnology; genetics; Exons; genetics; Family Health; Female; Heterozygote; Humans; Infant; Introns; genetics; Male; Mutation; Sequence Homology, Amino Acid; Succinate-Semialdehyde Dehydrogenase; deficiency; genetics
- From: Chinese Journal of Medical Genetics 2017;34(1):6-9
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.
METHODSGenomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing.
RESULTSThe proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls.
CONCLUSIONThe novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.
